Related gene-specific medical variations for Gene (Select 3751) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685264	GRCh37/hg19 7q31.31(chr7:118934871-120311025)x1	KCND2	Copy number loss	not provided	GUncertain significance
Select item 1696504	NM_012281.3(KCND2):c.1833C>A (p.Asp611Glu)	KCND2 (D611E)	Single nucleotide variant (missense variant)	KCND2-associated neurodevelopmental syndrome	GUncertain significance
Select item 1340480	GRCh37/hg19 7q31.31(chr7:120011679-120200064)x1	KCND2	Copy number loss	not provided	GLikely benign
Select item 1277548	NM_012281.3(KCND2):c.-1205C>T	KCND2, LOC129999192	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 815027	GRCh37/hg19 7q31.31(chr7:119657972-120040577)x3	KCND2	Copy number gain	not provided	GUncertain significance

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